Pearson syndrome
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| Pearson syndrome | |
| OMIM | 557000 |
|---|---|
| DiseasesDB | 32159 |
| eMedicine | ped/1750 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns-Sayre syndrome. It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare, less than hundred cases have been reported in medical literature worldwide.
The syndrome was first described by Pearson in 1979,[1] the deletions causing it were discovered a decade later.[2]
References
- ↑ Pearson HA, Lobel JS, Kocoshis SA; et al. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction". J. Pediatr. 95 (6): 976–84. PMID 501502.
- ↑ Rotig A, Colonna M, Bonnefont JP; et al. (1989). "Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome". Lancet. 1 (8643): 902–3. PMID 2564980.